Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814186C>A , CM000664.2:g.218814186C>A | GRCh38 |
| NC_000002.11:g.219678909C>A , CM000664.1:g.219678909C>A | GRCh37 |
| NC_000002.10:g.219387153C>A | NCBI36 |
| NG_007959.1:g.37438C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.1183C>A MANE Select | NP_000775.1:p.Arg395Ser |
| ENST00000258415.9:c.1183C>A MANE Select | ENSP00000258415.4:p.Arg395Ser |
| NM_000784.3:c.1183C>A | NP_000775.1:p.Arg395Ser |
| ENST00000258415.8:c.1183C>A | ENSP00000258415.4:p.Arg395Ser |
| ENST00000494263.5:n.1617C>A | |
| XM_017003488.2:c.763C>A | XP_016858977.1:p.Arg255Ser |